Neural Processing Letters · 2023 · 12 citations · 21 references
Life SciencesBiomedical InformaticsGeneticsComputational BiologyGenomicsMedical GeneticsDisease SubtypingGenetic DisordersGenetic SyndromesRare Disease GeneticsRare Disease GenomicsVariant ClassificationInherited Disease Diagnosis
21
The National Center for Biotechnology Information
D. A. Benson, Mark S. Boguski, David J. Lipman et al. · Genomics · 1990 · 5.2K citations · Full text
Identifying facial phenotypes of genetic disorders using deep learning
Yaron Gurovich, Yair Hanani, Omri Bar et al. · Nature Medicine · 2018 · 732 citations
Whole-genome sequencing in health care
Carla van El, Martina C. Cornel, Pascal Borry et al. · European Journal of Human Genetics · 2013 · 383 citations · Full text